KCNH1

Cilia effects upon perturbation of KCNH1

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Abnormal / altered cilia length

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.86) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

Intellectual disability

Subcellular localization

basal body, cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Cardiac & muscle development
• Cilia length regulation

Function

Also known as Kv10.1. Promotes ciliary disassembly and cell progression through localised changes of membrane potential at the ciliary base (28370099). Interacts with proteins involved in ciliary regulation, such as Rabaptin 5, cortactin, and HIF (27113750). KCNH1 mutations alter cilia length and morphology and affect ciliary transport (35639255) KCNH1 localizes at the base of the cilium in pre-ciliary vesicles and ciliary pocket, pathogenic missense variants perturb cilia morphology, assembly/disassembly, and SHH signaling. Quantification of the number of ciliated cells in wild-type and patient mutant fibroblasts. (35639255)